Name: allfamilies BQ0
Variants: 36237
Novel Variants: 458 (Not in latest DbSNP Build)

Type Total Variants
CODON_CHANGE_PLUS_CODON_DELETION48
CODON_CHANGE_PLUS_CODON_INSERTION35
CODON_DELETION25
CODON_INSERTION34
FRAME_SHIFT141
FRAME_SHIFT+SPLICE_SITE_REGION20
FRAME_SHIFT+START_LOST2
FRAME_SHIFT+STOP_GAINED1
FRAME_SHIFT+STOP_LOST2
MOTIF[MA0003.1:Ap2alpha]3
MOTIF[MA0024.1:E2F1]2
MOTIF[MA0035.2:Gata1]1
MOTIF[MA0058.1:Max]5
MOTIF[MA0062.1:Gabp]2
MOTIF[MA0062.2:Gabp]4
MOTIF[MA0079.1:SP1]2
MOTIF[MA0079.2:SP1]4
MOTIF[MA0095.1:Yy1]3
MOTIF[MA0114.1:HNF4A]2
MOTIF[MA0139.1:CTCF]16
MOTIF[MA0147.1:Cmyc]2
MOTIF[MA0154.1:EBF]1
MOTIF[MA0162.1:Egr1]3
NON_SYNONYMOUS_CODING8127
NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION191
PROTEIN_PROTEIN_INTERACTION_LOCUS4
PROTEIN_STRUCTURAL_INTERACTION_LOCUS224
SPLICE_SITE_REGION17
SPLICE_SITE_REGION+CODON_CHANGE_PLUS_CODON_DELETION1
SPLICE_SITE_REGION+CODON_INSERTION1
SPLICE_SITE_REGION+SYNONYMOUS_CODING218
START_GAINED112
START_LOST6
STOP_GAINED78
STOP_LOST17
STOP_LOST+SPLICE_SITE_REGION3
SYNONYMOUS_CODING9294
SYNONYMOUS_STOP9
TRANSCRIPT1
None0

Type Total Variants
718
MISSENSE8344
NONSENSE78
SILENT9521
None0

Type Total Variants
HIGH498
LOW9671
MODERATE8462
MODIFIER30
None0

Type Total Variants
PASS36237

Quality Value
Min10.0
Average1040.95172809008
Max3854.15

Read Depth Value
Min6
Average104.15081270524603
Max1624

Type Total Variants
None0
2|22
22

Chromossome Total Variants
13695
101530
112490
121884
13706
141125
151184
161565
172236
18589
192658
22559
20855
21477
22739
31894
41428
51545
62034
71635
81297
91483
X629